GREM2 c.226C>G ;(p.Q76E)

Variant ID: 1-240656550-G-C

NM_022469.3(GREM2):c.226C>G;(p.Q76E)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


A Novel Variant in APOB Gene Causes Extremely Low LDL-C Without Known Adverse Effects.

Jacc. Case Reports
Surakka, Ida I; Hornsby, Whitney E WE; Farhat, Linda L; Rubenfire, Melvyn M; Fritsche, Lars G LG; Hveem, Kristian K; Chen, Y Eugene YE; Brook, Robert D RD; Willer, Cristen J CJ; Weinberg, Richard L RL
Publication Date: 2020-05

Variant appearance in text: rs142343894
PubMed Link: 34317346
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg
Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS
Publication Date: 2021-07

Variant appearance in text: GREM2: 226C>G; Gln76Glu
PubMed Link: 33279945
Variant Present in the following documents:
  • Main text
  • 41431_2020_Article_784.pdf
  • 41431_2020_784_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Full Issue PDF.

Jacc. Case Reports
Publication Date: 2020-05

Variant appearance in text: rs142343894
PubMed Link: 32457937
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: GREM2: Q76E
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: GREM2: 226C>G; Gln76Glu
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 19
  • pone.0210079.s007.xlsx, sheet 18
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: GREM2: Q76E; rs142343894
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.

Genes
Williams, Meredith A MA; Letra, Ariadne A
Publication Date: 2018-05-16

Variant appearance in text: GREM2: Gln76Glu
PubMed Link: 29772684
Variant Present in the following documents:
  • Main text
  • genes-09-00255.pdf
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: GREM2: 226C>G; Q76E; rs142343894
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Examining rare and low-frequency genetic variants previously associated with lone or familial forms of atrial fibrillation in an electronic medical record system: a cautionary note.

Circulation. Cardiovascular Genetics
Weeke, Peter P; Denny, Joshua C JC; Basterache, Lisa L; Shaffer, Christian C; Bowton, Erica E; Ingram, Christie C; Darbar, Dawood D; Roden, Dan M DM
Publication Date: 2015-02

Variant appearance in text: GREM2: Gln76Glu
PubMed Link: 25410959
Variant Present in the following documents:
  • Main text
View BVdb publication page



A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology
Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R
Publication Date: 2014-09

Variant appearance in text: GREM2: Q76E
PubMed Link: 25188385
Variant Present in the following documents:
  • pcbi.1003825.s014.xlsx, sheet 1
View BVdb publication page



Atrial fibrillation: the role of common and rare genetic variants.

European Journal Of Human Genetics : Ejhg
Olesen, Morten S MS; Nielsen, Morten W MW; Haunsø, Stig S; Svendsen, Jesper H JH
Publication Date: 2014-03

Variant appearance in text: GREM2: 226C>G; Gln76Glu
PubMed Link: 23838598
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic mechanisms of atrial fibrillation: impact on response to treatment.

Nature Reviews. Cardiology
Darbar, Dawood D; Roden, Dan M DM
Publication Date: 2013-06

Variant appearance in text: GREM2: Q76E
PubMed Link: 23591267
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional modeling in zebrafish demonstrates that the atrial-fibrillation-associated gene GREM2 regulates cardiac laterality, cardiomyocyte differentiation and atrial rhythm.

Disease Models & Mechanisms
Müller, Iris I II; Melville, David B DB; Tanwar, Vineeta V; Rybski, Witold M WM; Mukherjee, Amrita A; Shoemaker, M Benjamin MB; Wang, Wan-Der WD; Schoenhard, John A JA; Roden, Dan M DM; Darbar, Dawood D; Knapik, Ela W EW; Hatzopoulos, Antonis K AK
Publication Date: 2013-03

Variant appearance in text: GREM2: 226C>G; Q76E; rs142343894
PubMed Link: 23223679
Variant Present in the following documents:
  • Main text
View BVdb publication page